October - December 2009, Volume 5, Issue 4

Procopiuc C, Dumitrescu C, Chirita C, Carsote M, Caragheorgheopol A, Goldstein A, Poiana C

Complete sex reversal: sry positive 46,XX male by Y to X translocation

Acta Endo (Buc) 2009, 5 (4): 525-531
doi: 10.4183/aeb.2009.525

Individuals with male phenotypes and 46 XX karyotype appear in about 1 of 20,000 births\r\nwith clinical features varying from normal male appearance to sexual ambiguity and\r\nhermaphroditism. More than 80% of these patients present a spontaneous translocation of the\r\nSRY gene from the Y to the X chromosome in the paternal germinal cells.\r\nWe present a case of a 2 years old boy diagnosed with minor hypospadias, bifid scrotum,\r\nnormal penis and palpable gonads in the scrotum. The karyotype is 46 XX and FISH analysis\r\nreveals SRY translocation on one of the X chromosomes. Ultrasound exam does not reveal any\r\nmullerian structures and a hCG test proves the testes to be functional. A short course of\r\ntreatment with hCG is recommended in order to induce the proper development of the scotal\r\nsac. The patient will need monitoring, in order to identify the development of hypergonadic\r\nhypogonadism, which characterizes such patients in later life. This case underlines the\r\nimportance of comprehensively investigating any patient with even minor genitalia anomalies.

Keywords: 46,XX male, SRY, tranlocation, 46,XX testicular DSD

Correspondence: Camelia Procopiuc, MD, Department of Pediatric Endocrinology, "C.I. Parhon"\r\nNational Institute of Endocrinology, Bucharest, Romania, email: procopiuc_camelia@yahoo.com